Search results for "Familial amyloid polyneuropathy"

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Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy

2016

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively. The first patient, a 52-year-old lady carrying Thr49Ala mutation, had a disease duration of twelve years and had lost weight up to 35 kg…

Malemedicine.medical_specialtyPediatricsMalabsorptionNausea030204 cardiovascular system & hematologyPediatrics03 medical and health sciences0302 clinical medicineQuality of lifeNutritional statusMedicineHumansWasting SyndromeTTR-FAPGenetics (clinical)Amyloid Neuropathies FamilialFamilial amyloid polyneuropathy; Modified body mass index (mBMI); Nutritional status; Parenteral nutrition; TTR-FAP; Neurology (clinical); Pediatrics Perinatology and Child Health; Genetics (clinical); Neurologybiologybusiness.industryAmyloidosisMiddle AgedPerinatology and Child Healthmedicine.diseaseParenteral nutritionSurgeryTransthyretinParenteral nutritionTreatment OutcomeAutonomic Nervous System DiseasesNeurologyFamilial amyloid polyneuropathyPediatrics Perinatology and Child Healthbiology.proteinQuality of LifeFemaleNeurology (clinical)medicine.symptombusinessBody mass index030217 neurology & neurosurgeryModified body mass index (mBMI)
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Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

2015

Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…

Research ReportPediatricsmedicine.medical_specialtyPathologydysautonomiaCardiomyopathyLate onsetTTRtransthyretinmedicineFamilial amyloid polyneuropathy FAP transthyretin TTR amyloidosis cardiomyopathy dysautonomia epidemiology Italyamyloidosisbiologybusiness.industryAmyloidosisDysautonomiaAutosomal dominant traitFAPmedicine.diseaseTransthyretinPeripheral neuropathyNeurologyItalyFamilial amyloid polyneuropathybiology.proteinepidemiologyNeurology (clinical)medicine.symptombusinessPolyneuropathycardiomyopathyJournal of Neuromuscular Diseases
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